A Landmark Diagnosis: First Reported Case of MEN1 Syndrome in a Qatari Patient with Literature Review

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome, most often involving parathyroid, gastroenteropancreatic, and pituitary tumors. First described in the early 20th century and confirmed in 1997 to result from mutations in the MEN1 gene. Early recognition is essential for timely management and family screening. Case Presentation: A 44-year-old woman presented for a second opinion on a recently diagnosed functional parathyroid adenoma, with prior workup showing elevated calcium (2.77 mmol/L) and PTH (141 pg/mL), and imaging suggestive of a left parathyroid adenoma plus a suspicious right thyroid nodule. Family history revealed possible pituitary tumor in her mother and thyroid cancer with pancreatic tumor in a cousin, raising suspicion for MEN1. Further evaluation included CT/MRI abdomen showing two small pancreatic tail lesions suspicious for neuroendocrine tumors, and pituitary MRI revealing a 5–6 mm microadenoma. Hormonal testing showed elevated prolactin (577 mIU/L). The diagnosis of MEN1 syndrome was made (parathyroid adenoma, pancreatic neuroendocrine tumors, pituitary microadenoma), and the positive genetic test confirmed the diagnosis. Multidisciplinary discussion recommended parathyroidectomy with surveillance of pancreatic and pituitary lesions. Conclusion: This case represents the first reported diagnosis of MEN1 syndrome in Qatari patient, highlighting the need to recognize its presence within the population. Early identification is critical, as MEN1 is a rare hereditary syndrome that requires timely detection, multidisciplinary management, and genetic screening of at-risk relatives. Establishing awareness and screening for suspicious cases will improve outcomes and ensure appropriate long-term surveillance.